Variant report

Variant	esv12941
Chromosome Location	chr4:15606201-15607407
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:6)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:15599091..15600880-chr4:15606438..15609058,2	K562	blood:
2	chr4:15606192..15608992-chr4:15609587..15612464,2	K562	blood:

No data

(count:6 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	FBXL5	hsa-miR-130b-3p	chr4:15607286-15607307
2	FBXL5	hsa-miR-93-5p	chr4:15607284-15607305
3	FBXL5	hsa-miR-186-5p	chr4:15606830-15606824
4	FBXL5	hsa-miR-93-5p	chr4:15606256-15606277
5	FBXL5	hsa-miR-93-5p	chr4:15607290-15607283
6	FBXL5	hsa-miR-130b-3p	chr4:15606258-15606280

Extended variants
information (count: 40 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563204468	chr4:15606238-15606239	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149522678	chr4:15606257-15606258	Weak transcription ZNF genes & repeats Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
3	rs10303	chr4:15606260-15606261	Weak transcription ZNF genes & repeats Strong transcription	miRNA target site	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs542940123	chr4:15606276-15606277	Weak transcription ZNF genes & repeats Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
5	rs191395223	chr4:15606322-15606323	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576554381	chr4:15606345-15606346	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78255455	chr4:15606389-15606390	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564955147	chr4:15606405-15606406	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs527424043	chr4:15606408-15606409	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs77079212	chr4:15606420-15606421	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs10214	chr4:15606431-15606432	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs183153441	chr4:15606438-15606439	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs370971976	chr4:15606449-15606450	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs28676493	chr4:15606470-15606471	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs374614879	chr4:15606502-15606503	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs550065217	chr4:15606554-15606555	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs187828650	chr4:15606580-15606581	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs532287144	chr4:15606715-15606716	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs552093441	chr4:15606766-15606767	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs193033038	chr4:15606832-15606833	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs144409581	chr4:15606873-15606874	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs111845065	chr4:15606893-15606894	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs567289746	chr4:15606894-15606895	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs528487090	chr4:15606948-15606949	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs185192526	chr4:15606982-15606983	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs148345900	chr4:15606999-15607000	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs576675873	chr4:15607003-15607004	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs545575113	chr4:15607038-15607039	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs368655281	chr4:15607042-15607043	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs34755367	chr4:15607052-15607053	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs367544365	chr4:15607057-15607058	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs371167972	chr4:15607071-15607072	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs541163659	chr4:15607128-15607129	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs35500539	chr4:15607248-15607249	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs190414775	chr4:15607251-15607252	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs376736818	chr4:15607294-15607295	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
37	rs574456928	chr4:15607314-15607315	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs201385522	chr4:15607322-15607323	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs143196332	chr4:15607351-15607352	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs376858405	chr4:15607371-15607372	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Breast cancer	22522925	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15537400-15621000	Weak transcription	Hela-S3	cervix
2	chr4:15550000-15617800	Weak transcription	Thymus	Thymus
3	chr4:15565400-15612600	Weak transcription	Brain Substantia Nigra	brain
4	chr4:15565400-15621400	Weak transcription	Esophagus	oesophagus
5	chr4:15565600-15611400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:15568400-15655600	Weak transcription	Gastric	stomach
7	chr4:15575200-15618000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:15587200-15612600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:15589800-15621400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:15590000-15615600	Weak transcription	Lung	lung
11	chr4:15590600-15626400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:15593800-15621200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr4:15594000-15607200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr4:15594000-15609200	Weak transcription	Psoas Muscle	Psoas
15	chr4:15594600-15617800	Weak transcription	Right Ventricle	heart
16	chr4:15595400-15614000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:15595800-15611400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr4:15596000-15608000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:15596000-15612800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr4:15596400-15606600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:15596600-15616400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:15596800-15610000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr4:15597200-15620600	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr4:15598400-15608800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:15598600-15607400	Strong transcription	NHDF-Ad	bronchial
26	chr4:15598600-15607800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:15598600-15611200	Strong transcription	HSMM	muscle
28	chr4:15599200-15607400	Strong transcription	Fetal Lung	lung
29	chr4:15599600-15606800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr4:15599600-15610000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:15600400-15606800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:15600600-15620800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr4:15600800-15653000	Weak transcription	Colonic Mucosa	Colon
34	chr4:15601000-15606400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr4:15601000-15651600	Weak transcription	Small Intestine	intestine
36	chr4:15601200-15607200	Strong transcription	Primary B cells from cord blood	blood
37	chr4:15601600-15607600	Strong transcription	Osteobl	bone
38	chr4:15601800-15606400	Strong transcription	Brain Hippocampus Middle	brain
39	chr4:15602000-15607600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:15602000-15607600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr4:15602000-15626000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr4:15602200-15606800	Strong transcription	Adipose Nuclei	Adipose
43	chr4:15602200-15607600	Strong transcription	Liver	Liver
44	chr4:15602200-15609200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr4:15602200-15621200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr4:15602400-15612600	Weak transcription	Brain Angular Gyrus	brain
47	chr4:15602400-15615600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:15602600-15606400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr4:15602600-15607400	Strong transcription	Fetal Kidney	kidney
50	chr4:15602600-15615800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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